Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral morphology (HP:0031816)help
Parent Node:
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Abnormal oral cavity morphology (HP:0000163)help
..Starting node
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Abnormality of the tongue (HP:0000157)help
Term ID: 157
Name: Abnormality of the tongue
Synonym: Abnormal tongue; Abnormality of the tongue; Glossal abnormality; Lingual abnormality; Tongue abnormality
Definition: Any abnormality of the tongue.
Comments:
Reference: HP:0000157
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal tongue morphology (HP:0030809) help
................... HP:0000158 Macroglossia
................... HP:0000162 Glossoptosis
................... HP:0000180 Lobulated tongue
................... HP:0000199 Tongue nodules
................... HP:0000206 Glossitis
................... HP:0000221 Furrowed tongue
................... HP:0000227 Tongue telangiectasia
................... HP:0009087 Posteriorly placed tongue
................... HP:0010295 Aplasia/Hypoplasia of the tongue
................... HP:0010296 Ankyloglossia
................... HP:0010297 Bifid tongue
................... HP:0010298 Smooth tongue
................... HP:0010808 Protruding tongue
................... HP:0012473 Tongue atrophy
................... HP:0025252 Geographic tongue
................... HP:0031042 Strawberry tongue
................... HP:0031373 Stiff tongue
................... HP:0040173 Abnormality of the tongue muscle
................... HP:0040294 Duplicated tongue
................... HP:3000051 Abnormality of hyoglossus muscle
................... HP:3000074 Abnormal lingual artery morphology
................... HP:3000076 Abnormality of lingual tonsil
........expandAbnormal tongue physiology (HP:0030810) help
................... HP:0000182 Movement abnormality of the tongue
................... HP:0000223 Abnormality of taste sensation
................... HP:0001308 Tongue fasciculations
................... HP:0030811 Tongue pain
........expandTongue edema (HP:0040315) help
........expandNeoplasm of the tongue (HP:0100648) help
................... HP:0011802 Hamartoma of tongue
................... HP:0030413 Squamous cell carcinoma of the tongue
................... HP:0030815 Lipoma of the tongue

 Sister Nodes: 
..expandAbnormal lip morphology (HP:0000159) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormal mouth floor morphology (HP:0410012) help
..expandAbnormal oral frenulum morphology (HP:0000190) help
..expandAbnormal oral mucosa morphology (HP:0011830) help
..expandAbnormal palate morphology (HP:0000174) help
..expandAbnormal salivary gland morphology (HP:0010286) help
..expandAbnormality of mouth shape (HP:0011338) help
..expandAbnormality of mouth size (HP:0011337) help
..expandAbnormality of the alveolar ridges (HP:0006477) help
..expandAbnormality of the dentition (HP:0000164) help
..expandNeoplasm of the oral cavity (HP:0100649) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000157HP:0000157Abnormality of the tongue0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0000157HP:0000157Abnormality of the tongue0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0000157HP:0000157Abnormality of the tongue0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0000157HP:0000157Abnormality of the tongue0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0000157HP:0000157Abnormality of the tongue0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000157HP:0000157Abnormality of the tongue0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000157HP:0000157Abnormality of the tongue0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000157HP:0000157Abnormality of the tongue0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0000157HP:0000157Abnormality of the tongue0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0000157HP:0000157Abnormality of the tongue0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0000157HP:0000157Abnormality of the tongue0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000157HP:0000157Abnormality of the tongue0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000157HP:0000157Abnormality of the tongue0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0000157HP:0000157Abnormality of the tongue0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0000157HP:0000157Abnormality of the tongue0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000157HP:0000157Abnormality of the tongue0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000157HP:0000157Abnormality of the tongue0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000157HP:0000157Abnormality of the tongue0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000157HP:0000157Abnormality of the tongue0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0000157HP:0000157Abnormality of the tongue0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDG66
HP:0000157HP:0000157Abnormality of the tongue0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0000157HP:0000157Abnormality of the tongue0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0000157HP:0000157Abnormality of the tongue0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0000157HP:0000157Abnormality of the tongue0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0000157HP:0000157Abnormality of the tongue0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndrome25
HP:0000157HP:0000157Abnormality of the tongue0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0000157HP:0000157Abnormality of the tongue0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000157HP:0000157Abnormality of the tongue0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0000157HP:0000157Abnormality of the tongue0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0000157HP:0000157Abnormality of the tongue0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000157HP:0000157Abnormality of the tongue0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0000157HP:0000157Abnormality of the tongue0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0000157HP:0000157Abnormality of the tongue0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000157HP:0000157Abnormality of the tongue0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0000157HP:0000157Abnormality of the tongue0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0000157HP:0000157Abnormality of the tongue0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000157HP:0000157Abnormality of the tongue0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000157HP:0000157Abnormality of the tongue0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040283 - Occasional8
HP:0000157HP:0000157Abnormality of the tongue0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0000157HP:0000157Abnormality of the tongue0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0000157HP:0000157Abnormality of the tongue0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000157HP:0000157Abnormality of the tongue0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000157HP:0000157Abnormality of the tongue0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000157HP:0000157Abnormality of the tongue0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0000157HP:0000157Abnormality of the tongue0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0000157HP:0000157Abnormality of the tongue0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000157HP:0000157Abnormality of the tongue0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000157HP:0000157Abnormality of the tongue0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0000157HP:0000157Abnormality of the tongue0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0000157HP:0000157Abnormality of the tongue0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0000157HP:0000157Abnormality of the tongue0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0000157HP:0000157Abnormality of the tongue0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0000157HP:0000157Abnormality of the tongue0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 233
HP:0000157HP:0000157Abnormality of the tongue0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0000157HP:0000157Abnormality of the tongue0CDC42BPB CL E G H95781738OMIM:619841
HP:0000157HP:0000157Abnormality of the tongue0CDCA7 CL E G H8387914628ORPHA:2268ICF syndrome4
HP:0000157HP:0000157Abnormality of the tongue0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0000157HP:0000157Abnormality of the tongue0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0000157HP:0000157Abnormality of the tongue0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0000157HP:0000157Abnormality of the tongue0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0000157HP:0000157Abnormality of the tongue0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0000157HP:0000157Abnormality of the tongue0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0000157HP:0000157Abnormality of the tongue0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0000157HP:0000157Abnormality of the tongue0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0000157HP:0000157Abnormality of the tongue0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0000157HP:0000157Abnormality of the tongue0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia222
HP:0000157HP:0000157Abnormality of the tongue0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0000157HP:0000157Abnormality of the tongue0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia284
HP:0000157HP:0000157Abnormality of the tongue0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type284
HP:0000157HP:0000157Abnormality of the tongue0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0000157HP:0000157Abnormality of the tongue0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0000157HP:0000157Abnormality of the tongue0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0000157HP:0000157Abnormality of the tongue0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000157HP:0000157Abnormality of the tongue0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000157HP:0000157Abnormality of the tongue0CPSF3 CL E G H516922326OMIM:619876
HP:0000157HP:0000157Abnormality of the tongue0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000157HP:0000157Abnormality of the tongue0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0000157HP:0000157Abnormality of the tongue0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0000157HP:0000157Abnormality of the tongue0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0000157HP:0000157Abnormality of the tongue0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0000157HP:0000157Abnormality of the tongue0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndrome273
HP:0000157HP:0000157Abnormality of the tongue0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000157HP:0000157Abnormality of the tongue0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000157HP:0000157Abnormality of the tongue0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000157HP:0000157Abnormality of the tongue0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000157HP:0000157Abnormality of the tongue0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000157HP:0000157Abnormality of the tongue0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000157HP:0000157Abnormality of the tongue0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000157HP:0000157Abnormality of the tongue0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0DNMT3B CL E G H17892979ORPHA:2268ICF syndrome79
HP:0000157HP:0000157Abnormality of the tongue0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0000157HP:0000157Abnormality of the tongue0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0000157HP:0000157Abnormality of the tongue0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesis121
HP:0000157HP:0000157Abnormality of the tongue0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0000157HP:0000157Abnormality of the tongue0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesis11
HP:0000157HP:0000157Abnormality of the tongue0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000157HP:0000157Abnormality of the tongue0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000157HP:0000157Abnormality of the tongue0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000157HP:0000157Abnormality of the tongue0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000157HP:0000157Abnormality of the tongue0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0000157HP:0000157Abnormality of the tongue0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0000157HP:0000157Abnormality of the tongue0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000157HP:0000157Abnormality of the tongue0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000157HP:0000157Abnormality of the tongue0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0000157HP:0000157Abnormality of the tongue0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0000157HP:0000157Abnormality of the tongue0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000157HP:0000157Abnormality of the tongue0EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 36
HP:0000157HP:0000157Abnormality of the tongue0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0000157HP:0000157Abnormality of the tongue0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0000157HP:0000157Abnormality of the tongue0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000157HP:0000157Abnormality of the tongue0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0000157HP:0000157Abnormality of the tongue0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000157HP:0000157Abnormality of the tongue0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0000157HP:0000157Abnormality of the tongue0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0000157HP:0000157Abnormality of the tongue0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0000157HP:0000157Abnormality of the tongue0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0000157HP:0000157Abnormality of the tongue0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000157HP:0000157Abnormality of the tongue0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0000157HP:0000157Abnormality of the tongue0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000157HP:0000157Abnormality of the tongue0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0000157HP:0000157Abnormality of the tongue0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000157HP:0000157Abnormality of the tongue0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0000157HP:0000157Abnormality of the tongue0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0000157HP:0000157Abnormality of the tongue0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000157HP:0000157Abnormality of the tongue0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0000157HP:0000157Abnormality of the tongue0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0000157HP:0000157Abnormality of the tongue0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0000157HP:0000157Abnormality of the tongue0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000157HP:0000157Abnormality of the tongue0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0000157HP:0000157Abnormality of the tongue0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0000157HP:0000157Abnormality of the tongue0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome2
HP:0000157HP:0000157Abnormality of the tongue0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000157HP:0000157Abnormality of the tongue0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0000157HP:0000157Abnormality of the tongue0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0000157HP:0000157Abnormality of the tongue0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0000157HP:0000157Abnormality of the tongue0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0000157HP:0000157Abnormality of the tongue0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0000157HP:0000157Abnormality of the tongue0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0000157HP:0000157Abnormality of the tongue0FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0000157HP:0000157Abnormality of the tongue0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0000157HP:0000157Abnormality of the tongue0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000157HP:0000157Abnormality of the tongue0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0000157HP:0000157Abnormality of the tongue0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0000157HP:0000157Abnormality of the tongue0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0000157HP:0000157Abnormality of the tongue0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0000157HP:0000157Abnormality of the tongue0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0000157HP:0000157Abnormality of the tongue0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000157HP:0000157Abnormality of the tongue0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000157HP:0000157Abnormality of the tongue0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000157HP:0000157Abnormality of the tongue0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0000157HP:0000157Abnormality of the tongue0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0000157HP:0000157Abnormality of the tongue0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0000157HP:0000157Abnormality of the tongue0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000157HP:0000157Abnormality of the tongue0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0000157HP:0000157Abnormality of the tongue0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040282 - Frequent199
HP:0000157HP:0000157Abnormality of the tongue0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040282 - Frequent56
HP:0000157HP:0000157Abnormality of the tongue0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0000157HP:0000157Abnormality of the tongue0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0000157HP:0000157Abnormality of the tongue0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000157HP:0000157Abnormality of the tongue0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000157HP:0000157Abnormality of the tongue0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0000157HP:0000157Abnormality of the tongue0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0000157HP:0000157Abnormality of the tongue0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000157HP:0000157Abnormality of the tongue0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0000157HP:0000157Abnormality of the tongue0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000157HP:0000157Abnormality of the tongue0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000157HP:0000157Abnormality of the tongue0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000157HP:0000157Abnormality of the tongue0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000157HP:0000157Abnormality of the tongue0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000157HP:0000157Abnormality of the tongue0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000157HP:0000157Abnormality of the tongue0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000157HP:0000157Abnormality of the tongue0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000157HP:0000157Abnormality of the tongue0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000157HP:0000157Abnormality of the tongue0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0000157HP:0000157Abnormality of the tongue0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000157HP:0000157Abnormality of the tongue0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000157HP:0000157Abnormality of the tongue0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000157HP:0000157Abnormality of the tongue0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000157HP:0000157Abnormality of the tongue0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0000157HP:0000157Abnormality of the tongue0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0000157HP:0000157Abnormality of the tongue0H4C5 CL E G H83674790OMIM:619950
HP:0000157HP:0000157Abnormality of the tongue0HELLS CL E G H30704861ORPHA:2268ICF syndrome6
HP:0000157HP:0000157Abnormality of the tongue0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0000157HP:0000157Abnormality of the tongue0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0000157HP:0000157Abnormality of the tongue0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0000157HP:0000157Abnormality of the tongue0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0000157HP:0000157Abnormality of the tongue0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000157HP:0000157Abnormality of the tongue0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000157HP:0000157Abnormality of the tongue0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0000157HP:0000157Abnormality of the tongue0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0000157HP:0000157Abnormality of the tongue0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000157HP:0000157Abnormality of the tongue0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000157HP:0000157Abnormality of the tongue0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0000157HP:0000157Abnormality of the tongue0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0000157HP:0000157Abnormality of the tongue0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0000157HP:0000157Abnormality of the tongue0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0000157HP:0000157Abnormality of the tongue0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0000157HP:0000157Abnormality of the tongue0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000157HP:0000157Abnormality of the tongue0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000157HP:0000157Abnormality of the tongue0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0000157HP:0000157Abnormality of the tongue0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0000157HP:0000157Abnormality of the tongue0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0000157HP:0000157Abnormality of the tongue0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000157HP:0000157Abnormality of the tongue0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000157HP:0000157Abnormality of the tongue0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0000157HP:0000157Abnormality of the tongue0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000157HP:0000157Abnormality of the tongue0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000157HP:0000157Abnormality of the tongue0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesis130
HP:0000157HP:0000157Abnormality of the tongue0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0000157HP:0000157Abnormality of the tongue0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000157HP:0000157Abnormality of the tongue0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0000157HP:0000157Abnormality of the tongue0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0000157HP:0000157Abnormality of the tongue0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000157HP:0000157Abnormality of the tongue0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000157HP:0000157Abnormality of the tongue0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0000157HP:0000157Abnormality of the tongue0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0000157HP:0000157Abnormality of the tongue0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000157HP:0000157Abnormality of the tongue0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0000157HP:0000157Abnormality of the tongue0KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV4
HP:0000157HP:0000157Abnormality of the tongue0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0000157HP:0000157Abnormality of the tongue0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000157HP:0000157Abnormality of the tongue0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0000157HP:0000157Abnormality of the tongue0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000157HP:0000157Abnormality of the tongue0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0000157HP:0000157Abnormality of the tongue0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0000157HP:0000157Abnormality of the tongue0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0000157HP:0000157Abnormality of the tongue0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0000157HP:0000157Abnormality of the tongue0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0000157HP:0000157Abnormality of the tongue0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0000157HP:0000157Abnormality of the tongue0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0000157HP:0000157Abnormality of the tongue0LGI3 CL E G H20319018711OMIM:620007
HP:0000157HP:0000157Abnormality of the tongue0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0000157HP:0000157Abnormality of the tongue0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0000157HP:0000157Abnormality of the tongue0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0000157HP:0000157Abnormality of the tongue0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0000157HP:0000157Abnormality of the tongue0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0000157HP:0000157Abnormality of the tongue0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblF46
HP:0000157HP:0000157Abnormality of the tongue0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0000157HP:0000157Abnormality of the tongue0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0000157HP:0000157Abnormality of the tongue0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000157HP:0000157Abnormality of the tongue0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 911
HP:0000157HP:0000157Abnormality of the tongue0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0000157HP:0000157Abnormality of the tongue0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0000157HP:0000157Abnormality of the tongue0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0000157HP:0000157Abnormality of the tongue0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000157HP:0000157Abnormality of the tongue0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000157HP:0000157Abnormality of the tongue0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000157HP:0000157Abnormality of the tongue0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional22
HP:0000157HP:0000157Abnormality of the tongue0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0000157HP:0000157Abnormality of the tongue0MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0000157HP:0000157Abnormality of the tongue0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0000157HP:0000157Abnormality of the tongue0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000157HP:0000157Abnormality of the tongue0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0000157HP:0000157Abnormality of the tongue0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000157HP:0000157Abnormality of the tongue0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000157HP:0000157Abnormality of the tongue0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000157HP:0000157Abnormality of the tongue0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0000157HP:0000157Abnormality of the tongue0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000157HP:0000157Abnormality of the tongue0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0000157HP:0000157Abnormality of the tongue0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0000157HP:0000157Abnormality of the tongue0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0000157HP:0000157Abnormality of the tongue0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000157HP:0000157Abnormality of the tongue0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000157HP:0000157Abnormality of the tongue0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0000157HP:0000157Abnormality of the tongue0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0000157HP:0000157Abnormality of the tongue0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0000157HP:0000157Abnormality of the tongue0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0000157HP:0000157Abnormality of the tongue0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0000157HP:0000157Abnormality of the tongue0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0000157HP:0000157Abnormality of the tongue0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0000157HP:0000157Abnormality of the tongue0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0000157HP:0000157Abnormality of the tongue0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0000157HP:0000157Abnormality of the tongue0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000157HP:0000157Abnormality of the tongue0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0000157HP:0000157Abnormality of the tongue0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0000157HP:0000157Abnormality of the tongue0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0000157HP:0000157Abnormality of the tongue0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0000157HP:0000157Abnormality of the tongue0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0000157HP:0000157Abnormality of the tongue0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0000157HP:0000157Abnormality of the tongue0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0000157HP:0000157Abnormality of the tongue0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000157HP:0000157Abnormality of the tongue0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0000157HP:0000157Abnormality of the tongue0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndrome40
HP:0000157HP:0000157Abnormality of the tongue0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000157HP:0000157Abnormality of the tongue0NKX2-1 CL E G H708011825ORPHA:95713Athyreosis51
HP:0000157HP:0000157Abnormality of the tongue0NKX2-5 CL E G H14822488ORPHA:95713Athyreosis90
HP:0000157HP:0000157Abnormality of the tongue0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopia90
HP:0000157HP:0000157Abnormality of the tongue0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000157HP:0000157Abnormality of the tongue0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0000157HP:0000157Abnormality of the tongue0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000157HP:0000157Abnormality of the tongue0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0000157HP:0000157Abnormality of the tongue0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0000157HP:0000157Abnormality of the tongue0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000157HP:0000157Abnormality of the tongue0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0000157HP:0000157Abnormality of the tongue0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000157HP:0000157Abnormality of the tongue0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0000157HP:0000157Abnormality of the tongue0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0000157HP:0000157Abnormality of the tongue0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0000157HP:0000157Abnormality of the tongue0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndrome41
HP:0000157HP:0000157Abnormality of the tongue0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0000157HP:0000157Abnormality of the tongue0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0000157HP:0000157Abnormality of the tongue0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0000157HP:0000157Abnormality of the tongue0PAX8 CL E G H78498622ORPHA:95713Athyreosis63
HP:0000157HP:0000157Abnormality of the tongue0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0000157HP:0000157Abnormality of the tongue0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopia63
HP:0000157HP:0000157Abnormality of the tongue0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasia63
HP:0000157HP:0000157Abnormality of the tongue0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000157HP:0000157Abnormality of the tongue0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0000157HP:0000157Abnormality of the tongue0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000157HP:0000157Abnormality of the tongue0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional
HP:0000157HP:0000157Abnormality of the tongue0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000157HP:0000157Abnormality of the tongue0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040283 - Occasional169
HP:0000157HP:0000157Abnormality of the tongue0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040283 - Occasional75
HP:0000157HP:0000157Abnormality of the tongue0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040283 - Occasional4
HP:0000157HP:0000157Abnormality of the tongue0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040283 - Occasional65
HP:0000157HP:0000157Abnormality of the tongue0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040283 - Occasional66
HP:0000157HP:0000157Abnormality of the tongue0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040283 - Occasional46
HP:0000157HP:0000157Abnormality of the tongue0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger)59
HP:0000157HP:0000157Abnormality of the tongue0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040283 - Occasional59
HP:0000157HP:0000157Abnormality of the tongue0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040283 - Occasional62
HP:0000157HP:0000157Abnormality of the tongue0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040283 - Occasional82
HP:0000157HP:0000157Abnormality of the tongue0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040283 - Occasional106
HP:0000157HP:0000157Abnormality of the tongue0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040283 - Occasional47
HP:0000157HP:0000157Abnormality of the tongue0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040283 - Occasional99
HP:0000157HP:0000157Abnormality of the tongue0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040283 - Occasional98
HP:0000157HP:0000157Abnormality of the tongue0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0000157HP:0000157Abnormality of the tongue0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000157HP:0000157Abnormality of the tongue0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000157HP:0000157Abnormality of the tongue0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 116
HP:0000157HP:0000157Abnormality of the tongue0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000157HP:0000157Abnormality of the tongue0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000157HP:0000157Abnormality of the tongue0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0000157HP:0000157Abnormality of the tongue0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000157HP:0000157Abnormality of the tongue0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0000157HP:0000157Abnormality of the tongue0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000157HP:0000157Abnormality of the tongue0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0000157HP:0000157Abnormality of the tongue0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0000157HP:0000157Abnormality of the tongue0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0000157HP:0000157Abnormality of the tongue0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000157HP:0000157Abnormality of the tongue0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0000157HP:0000157Abnormality of the tongue0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000157HP:0000157Abnormality of the tongue0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000157HP:0000157Abnormality of the tongue0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000157HP:0000157Abnormality of the tongue0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0000157HP:0000157Abnormality of the tongue0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0000157HP:0000157Abnormality of the tongue0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0000157HP:0000157Abnormality of the tongue0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0000157HP:0000157Abnormality of the tongue0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0000157HP:0000157Abnormality of the tongue0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0000157HP:0000157Abnormality of the tongue0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0000157HP:0000157Abnormality of the tongue0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000157HP:0000157Abnormality of the tongue0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0000157HP:0000157Abnormality of the tongue0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0000157HP:0000157Abnormality of the tongue0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0000157HP:0000157Abnormality of the tongue0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0000157HP:0000157Abnormality of the tongue0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000157HP:0000157Abnormality of the tongue0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0000157HP:0000157Abnormality of the tongue0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall type28
HP:0000157HP:0000157Abnormality of the tongue0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0000157HP:0000157Abnormality of the tongue0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000157HP:0000157Abnormality of the tongue0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0000157HP:0000157Abnormality of the tongue0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0000157HP:0000157Abnormality of the tongue0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000157HP:0000157Abnormality of the tongue0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0000157HP:0000157Abnormality of the tongue0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndrome4
HP:0000157HP:0000157Abnormality of the tongue0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex4
HP:0000157HP:0000157Abnormality of the tongue0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0000157HP:0000157Abnormality of the tongue0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0000157HP:0000157Abnormality of the tongue0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000157HP:0000157Abnormality of the tongue0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0000157HP:0000157Abnormality of the tongue0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000157HP:0000157Abnormality of the tongue0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0000157HP:0000157Abnormality of the tongue0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0000157HP:0000157Abnormality of the tongue0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0000157HP:0000157Abnormality of the tongue0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0000157HP:0000157Abnormality of the tongue0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0000157HP:0000157Abnormality of the tongue0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0000157HP:0000157Abnormality of the tongue0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000157HP:0000157Abnormality of the tongue0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0000157HP:0000157Abnormality of the tongue0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000157HP:0000157Abnormality of the tongue0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0000157HP:0000157Abnormality of the tongue0RBM10 CL E G H82419896OMIM:311900Tarp syndrome16
HP:0000157HP:0000157Abnormality of the tongue0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000157HP:0000157Abnormality of the tongue0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0000157HP:0000157Abnormality of the tongue0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000157HP:0000157Abnormality of the tongue0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0RIPK4 CL E G H54101496ORPHA:1401CHAND syndrome69
HP:0000157HP:0000157Abnormality of the tongue0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0000157HP:0000157Abnormality of the tongue0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0000157HP:0000157Abnormality of the tongue0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0000157HP:0000157Abnormality of the tongue0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000157HP:0000157Abnormality of the tongue0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000157HP:0000157Abnormality of the tongue0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0000157HP:0000157Abnormality of the tongue0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0000157HP:0000157Abnormality of the tongue0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0000157HP:0000157Abnormality of the tongue0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000157HP:0000157Abnormality of the tongue0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000157HP:0000157Abnormality of the tongue0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000157HP:0000157Abnormality of the tongue0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000157HP:0000157Abnormality of the tongue0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0000157HP:0000157Abnormality of the tongue0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0000157HP:0000157Abnormality of the tongue0SCNM1 CL E G H7900523136OMIM:620107
HP:0000157HP:0000157Abnormality of the tongue0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000157HP:0000157Abnormality of the tongue0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000157HP:0000157Abnormality of the tongue0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000157HP:0000157Abnormality of the tongue0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000157HP:0000157Abnormality of the tongue0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 164
HP:0000157HP:0000157Abnormality of the tongue0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000157HP:0000157Abnormality of the tongue0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000157HP:0000157Abnormality of the tongue0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0000157HP:0000157Abnormality of the tongue0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0000157HP:0000157Abnormality of the tongue0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0000157HP:0000157Abnormality of the tongue0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000157HP:0000157Abnormality of the tongue0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0000157HP:0000157Abnormality of the tongue0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000157HP:0000157Abnormality of the tongue0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000157HP:0000157Abnormality of the tongue0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0000157HP:0000157Abnormality of the tongue0SLC26A4 CL E G H51728818ORPHA:95713Athyreosis274
HP:0000157HP:0000157Abnormality of the tongue0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasia274
HP:0000157HP:0000157Abnormality of the tongue0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000157HP:0000157Abnormality of the tongue0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000157HP:0000157Abnormality of the tongue0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0000157HP:0000157Abnormality of the tongue0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type55
HP:0000157HP:0000157Abnormality of the tongue0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorption101
HP:0000157HP:0000157Abnormality of the tongue0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0000157HP:0000157Abnormality of the tongue0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0000157HP:0000157Abnormality of the tongue0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesis59
HP:0000157HP:0000157Abnormality of the tongue0SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 159
HP:0000157HP:0000157Abnormality of the tongue0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup disease12
HP:0000157HP:0000157Abnormality of the tongue0SLC6A19 CL E G H34002427960OMIM:234500Hartnup disorder12
HP:0000157HP:0000157Abnormality of the tongue0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4617
HP:0000157HP:0000157Abnormality of the tongue0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0000157HP:0000157Abnormality of the tongue0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000157HP:0000157Abnormality of the tongue0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000157HP:0000157Abnormality of the tongue0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0000157HP:0000157Abnormality of the tongue0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0000157HP:0000157Abnormality of the tongue0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0000157HP:0000157Abnormality of the tongue0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0000157HP:0000157Abnormality of the tongue0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0000157HP:0000157Abnormality of the tongue0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0000157HP:0000157Abnormality of the tongue0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000157HP:0000157Abnormality of the tongue0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism3
HP:0000157HP:0000157Abnormality of the tongue0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0000157HP:0000157Abnormality of the tongue0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0000157HP:0000157Abnormality of the tongue0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000157HP:0000157Abnormality of the tongue0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0000157HP:0000157Abnormality of the tongue0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0000157HP:0000157Abnormality of the tongue0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0000157HP:0000157Abnormality of the tongue0SOX9 CL E G H666211204ORPHA:718Isolated Pierre Robin syndrome109
HP:0000157HP:0000157Abnormality of the tongue0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000157HP:0000157Abnormality of the tongue0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0000157HP:0000157Abnormality of the tongue0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0000157HP:0000157Abnormality of the tongue0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0000157HP:0000157Abnormality of the tongue0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000157HP:0000157Abnormality of the tongue0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathy108
HP:0000157HP:0000157Abnormality of the tongue0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000157HP:0000157Abnormality of the tongue0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0000157HP:0000157Abnormality of the tongue0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000157HP:0000157Abnormality of the tongue0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000157HP:0000157Abnormality of the tongue0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000157HP:0000157Abnormality of the tongue0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0000157HP:0000157Abnormality of the tongue0TBX22 CL E G H5094511600OMIM:303400Cleft palate, X-linked28
HP:0000157HP:0000157Abnormality of the tongue0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000157HP:0000157Abnormality of the tongue0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0000157HP:0000157Abnormality of the tongue0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0000157HP:0000157Abnormality of the tongue0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0000157HP:0000157Abnormality of the tongue0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0000157HP:0000157Abnormality of the tongue0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0000157HP:0000157Abnormality of the tongue0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000157HP:0000157Abnormality of the tongue0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0000157HP:0000157Abnormality of the tongue0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0000157HP:0000157Abnormality of the tongue0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000157HP:0000157Abnormality of the tongue0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesis155
HP:0000157HP:0000157Abnormality of the tongue0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0000157HP:0000157Abnormality of the tongue0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0000157HP:0000157Abnormality of the tongue0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 69
HP:0000157HP:0000157Abnormality of the tongue0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0000157HP:0000157Abnormality of the tongue0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0000157HP:0000157Abnormality of the tongue0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0000157HP:0000157Abnormality of the tongue0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0000157HP:0000157Abnormality of the tongue0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0000157HP:0000157Abnormality of the tongue0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0000157HP:0000157Abnormality of the tongue0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0000157HP:0000157Abnormality of the tongue0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0000157HP:0000157Abnormality of the tongue0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000157HP:0000157Abnormality of the tongue0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0000157HP:0000157Abnormality of the tongue0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesis92
HP:0000157HP:0000157Abnormality of the tongue0TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 84
HP:0000157HP:0000157Abnormality of the tongue0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000157HP:0000157Abnormality of the tongue0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000157HP:0000157Abnormality of the tongue0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0000157HP:0000157Abnormality of the tongue0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0000157HP:0000157Abnormality of the tongue0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0000157HP:0000157Abnormality of the tongue0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional151
HP:0000157HP:0000157Abnormality of the tongue0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0000157HP:0000157Abnormality of the tongue0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0000157HP:0000157Abnormality of the tongue0TSHR CL E G H725312373ORPHA:95713Athyreosis97
HP:0000157HP:0000157Abnormality of the tongue0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutations97
HP:0000157HP:0000157Abnormality of the tongue0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasia97
HP:0000157HP:0000157Abnormality of the tongue0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0000157HP:0000157Abnormality of the tongue0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0000157HP:0000157Abnormality of the tongue0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0000157HP:0000157Abnormality of the tongue0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0000157HP:0000157Abnormality of the tongue0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0000157HP:0000157Abnormality of the tongue0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000157HP:0000157Abnormality of the tongue0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0000157HP:0000157Abnormality of the tongue0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0000157HP:0000157Abnormality of the tongue0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0000157HP:0000157Abnormality of the tongue0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000157HP:0000157Abnormality of the tongue0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000157HP:0000157Abnormality of the tongue0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndrome63
HP:0000157HP:0000157Abnormality of the tongue0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000157HP:0000157Abnormality of the tongue0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000157HP:0000157Abnormality of the tongue0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0000157HP:0000157Abnormality of the tongue0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000157HP:0000157Abnormality of the tongue0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000157HP:0000157Abnormality of the tongue0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0000157HP:0000157Abnormality of the tongue0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0000157HP:0000157Abnormality of the tongue0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0000157HP:0000157Abnormality of the tongue0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0000157HP:0000157Abnormality of the tongue0WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndrome60
HP:0000157HP:0000157Abnormality of the tongue0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0000157HP:0000157Abnormality of the tongue0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0000157HP:0000157Abnormality of the tongue0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000157HP:0000157Abnormality of the tongue0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000157HP:0000157Abnormality of the tongue0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000157HP:0000157Abnormality of the tongue0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0000157HP:0000157Abnormality of the tongue0XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4
HP:0000157HP:0000157Abnormality of the tongue0ZBTB24 CL E G H984121143ORPHA:2268ICF syndrome9
HP:0000157HP:0000157Abnormality of the tongue0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0000157HP:0000157Abnormality of the tongue0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0000157HP:0000157Abnormality of the tongue0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000157HP:0030809Abnormal tongue morphology1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0000157HP:0030809Abnormal tongue morphology1ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0000157HP:0030809Abnormal tongue morphology1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0000157HP:0030809Abnormal tongue morphology1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0000157HP:0030810Abnormal tongue physiology1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000157HP:0030809Abnormal tongue morphology1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000157HP:0030809Abnormal tongue morphology1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0000157HP:0030809Abnormal tongue morphology1AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0000157HP:0030809Abnormal tongue morphology1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0000157HP:0030809Abnormal tongue morphology1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0000157HP:0030810Abnormal tongue physiology1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000157HP:0030810Abnormal tongue physiology1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000157HP:0030810Abnormal tongue physiology1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0000157HP:0030810Abnormal tongue physiology1AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0000157HP:0030809Abnormal tongue morphology1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000157HP:0030809Abnormal tongue morphology1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000157HP:0030809Abnormal tongue morphology1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000157HP:0100648Neoplasm of the tongue1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0000157HP:0030809Abnormal tongue morphology1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0000157HP:0030809Abnormal tongue morphology1ALG6 CL E G H2992923157ORPHA:79320ALG6-CDG66
HP:0000157HP:0030809Abnormal tongue morphology1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0000157HP:0030810Abnormal tongue physiology1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0000157HP:0030810Abnormal tongue physiology1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0000157HP:0030809Abnormal tongue morphology1ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0000157HP:0030809Abnormal tongue morphology1AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndrome25
HP:0000157HP:0030809Abnormal tongue morphology1AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0000157HP:0030809Abnormal tongue morphology1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000157HP:0030809Abnormal tongue morphology1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0000157HP:0030810Abnormal tongue physiology1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0000157HP:0030810Abnormal tongue physiology1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000157HP:0030810Abnormal tongue physiology1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0000157HP:0030810Abnormal tongue physiology1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0000157HP:0030809Abnormal tongue morphology1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000157HP:0030809Abnormal tongue morphology1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0000157HP:0030809Abnormal tongue morphology1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0000157HP:0030809Abnormal tongue morphology1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000157HP:0030809Abnormal tongue morphology1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000157HP:0030809Abnormal tongue morphology1B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0000157HP:0030809Abnormal tongue morphology1B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0000157HP:0100648Neoplasm of the tongue1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0000157HP:0030809Abnormal tongue morphology1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000157HP:0030809Abnormal tongue morphology1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000157HP:0030809Abnormal tongue morphology1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000157HP:0030809Abnormal tongue morphology1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000157HP:0030809Abnormal tongue morphology1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0000157HP:0030809Abnormal tongue morphology1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0000157HP:0030809Abnormal tongue morphology1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000157HP:0100648Neoplasm of the tongue1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000157HP:0030809Abnormal tongue morphology1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000157HP:0100648Neoplasm of the tongue1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000157HP:0030809Abnormal tongue morphology1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000157HP:0030810Abnormal tongue physiology1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0000157HP:0100648Neoplasm of the tongue1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0000157HP:0030809Abnormal tongue morphology1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0000157HP:0030809Abnormal tongue morphology1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0000157HP:0030809Abnormal tongue morphology1CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0000157HP:0030809Abnormal tongue morphology1CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 233
HP:0000157HP:0030809Abnormal tongue morphology1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0000157HP:0030809Abnormal tongue morphology1CDC42BPB CL E G H95781738OMIM:619841
HP:0000157HP:0030809Abnormal tongue morphology1CDCA7 CL E G H8387914628ORPHA:2268ICF syndrome4
HP:0000157HP:0030809Abnormal tongue morphology1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0000157HP:0030809Abnormal tongue morphology1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0000157HP:0030809Abnormal tongue morphology1CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0000157HP:0030810Abnormal tongue physiology1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0000157HP:0030809Abnormal tongue morphology1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0000157HP:0030809Abnormal tongue morphology1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000157HP:0030809Abnormal tongue morphology1CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0000157HP:0030809Abnormal tongue morphology1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0000157HP:0030809Abnormal tongue morphology1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0000157HP:0030809Abnormal tongue morphology1COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia222
HP:0000157HP:0030809Abnormal tongue morphology1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0000157HP:0030809Abnormal tongue morphology1COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia284
HP:0000157HP:0030809Abnormal tongue morphology1COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type284
HP:0000157HP:0030809Abnormal tongue morphology1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0000157HP:0030809Abnormal tongue morphology1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0000157HP:0030809Abnormal tongue morphology1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0000157HP:0100648Neoplasm of the tongue1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000157HP:0030809Abnormal tongue morphology1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000157HP:0100648Neoplasm of the tongue1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000157HP:0030809Abnormal tongue morphology1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000157HP:0030809Abnormal tongue morphology1CPSF3 CL E G H516922326OMIM:619876
HP:0000157HP:0030809Abnormal tongue morphology1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000157HP:0030809Abnormal tongue morphology1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0000157HP:0030809Abnormal tongue morphology1CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0000157HP:0030809Abnormal tongue morphology1CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0000157HP:0030809Abnormal tongue morphology1CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0000157HP:0030809Abnormal tongue morphology1CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndrome273
HP:0000157HP:0030809Abnormal tongue morphology1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000157HP:0030809Abnormal tongue morphology1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000157HP:0030809Abnormal tongue morphology1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000157HP:0100648Neoplasm of the tongue1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000157HP:0030809Abnormal tongue morphology1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000157HP:0030809Abnormal tongue morphology1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000157HP:0030809Abnormal tongue morphology1DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000157HP:0030809Abnormal tongue morphology1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000157HP:0030809Abnormal tongue morphology1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000157HP:0030809Abnormal tongue morphology1DNMT3B CL E G H17892979ORPHA:2268ICF syndrome79
HP:0000157HP:0030809Abnormal tongue morphology1DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0000157HP:0030809Abnormal tongue morphology1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0000157HP:0030809Abnormal tongue morphology1DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesis121
HP:0000157HP:0030809Abnormal tongue morphology1DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0000157HP:0030809Abnormal tongue morphology1DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesis11
HP:0000157HP:0030809Abnormal tongue morphology1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000157HP:0030809Abnormal tongue morphology1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000157HP:0030809Abnormal tongue morphology1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000157HP:0030809Abnormal tongue morphology1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000157HP:0100648Neoplasm of the tongue1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0000157HP:0030809Abnormal tongue morphology1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0000157HP:0030809Abnormal tongue morphology1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0000157HP:0030809Abnormal tongue morphology1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000157HP:0030809Abnormal tongue morphology1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000157HP:0030809Abnormal tongue morphology1ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0000157HP:0030809Abnormal tongue morphology1ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0000157HP:0100648Neoplasm of the tongue1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000157HP:0030810Abnormal tongue physiology1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000157HP:0030809Abnormal tongue morphology1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000157HP:0030809Abnormal tongue morphology1EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 36
HP:0000157HP:0030809Abnormal tongue morphology1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0000157HP:0030810Abnormal tongue physiology1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0000157HP:0030809Abnormal tongue morphology1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000157HP:0030809Abnormal tongue morphology1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0000157HP:0030809Abnormal tongue morphology1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000157HP:0030809Abnormal tongue morphology1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000157HP:0030810Abnormal tongue physiology1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0000157HP:0030809Abnormal tongue morphology1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0000157HP:0030809Abnormal tongue morphology1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0000157HP:0030809Abnormal tongue morphology1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0000157HP:0030810Abnormal tongue physiology1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000157HP:0030810Abnormal tongue physiology1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0000157HP:0030809Abnormal tongue morphology1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0000157HP:0030810Abnormal tongue physiology1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000157HP:0030810Abnormal tongue physiology1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0000157HP:0030810Abnormal tongue physiology1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000157HP:0030810Abnormal tongue physiology1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0000157HP:0030809Abnormal tongue morphology1FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0000157HP:0100648Neoplasm of the tongue1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000157HP:0030809Abnormal tongue morphology1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000157HP:0030809Abnormal tongue morphology1FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0000157HP:0100648Neoplasm of the tongue1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0000157HP:0100648Neoplasm of the tongue1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0000157HP:0030809Abnormal tongue morphology1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000157HP:0030809Abnormal tongue morphology1FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0000157HP:0030809Abnormal tongue morphology1FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0000157HP:0030809Abnormal tongue morphology1FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome2
HP:0000157HP:0030809Abnormal tongue morphology1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000157HP:0030809Abnormal tongue morphology1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000157HP:0030809Abnormal tongue morphology1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0000157HP:0030809Abnormal tongue morphology1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0000157HP:0030809Abnormal tongue morphology1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0000157HP:0030809Abnormal tongue morphology1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0000157HP:0030809Abnormal tongue morphology1FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0000157HP:0030809Abnormal tongue morphology1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0000157HP:0030809Abnormal tongue morphology1FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0000157HP:0030809Abnormal tongue morphology1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0000157HP:0030810Abnormal tongue physiology1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000157HP:0030809Abnormal tongue morphology1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0000157HP:0030809Abnormal tongue morphology1FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0000157HP:0030809Abnormal tongue morphology1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0000157HP:0030809Abnormal tongue morphology1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0000157HP:0030809Abnormal tongue morphology1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0000157HP:0030810Abnormal tongue physiology1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000157HP:0030810Abnormal tongue physiology1FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000157HP:0030809Abnormal tongue morphology1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000157HP:0030810Abnormal tongue physiology1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0000157HP:0030809Abnormal tongue morphology1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0000157HP:0030809Abnormal tongue morphology1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0000157HP:0030809Abnormal tongue morphology1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0000157HP:0030810Abnormal tongue physiology1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000157HP:0030809Abnormal tongue morphology1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0000157HP:0100648Neoplasm of the tongue1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000157HP:0100648Neoplasm of the tongue1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000157HP:0030809Abnormal tongue morphology1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0000157HP:0030809Abnormal tongue morphology1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0000157HP:0030809Abnormal tongue morphology1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000157HP:0030809Abnormal tongue morphology1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000157HP:0030809Abnormal tongue morphology1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0000157HP:0030809Abnormal tongue morphology1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0000157HP:0030810Abnormal tongue physiology1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000157HP:0030809Abnormal tongue morphology1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000157HP:0100648Neoplasm of the tongue1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000157HP:0030809Abnormal tongue morphology1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0000157HP:0030809Abnormal tongue morphology1GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000157HP:0030809Abnormal tongue morphology1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000157HP:0030809Abnormal tongue morphology1GNS CL E G H27994422